Canonical Allele Identifier: CA1979718269

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515508_66515516delinsAGCTCACAG , CM000673.2:g.66515508_66515516delinsAGCTCACAG	GRCh38
NC_000011.9:g.66282979_66282987delinsAGCTCACAG , CM000673.1:g.66282979_66282987delinsAGCTCACAG	GRCh37
NC_000011.8:g.66039555_66039563delinsAGCTCACAG	NCBI36
NG_009093.1:g.9861_9869delinsAGCTCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.433-32_433-24delinsAGCTCACAG MANE Select	ENSP00000317469.7:n.433-32_433-24delinsAGCTCACAG
ENST00000318312.11:c.433-32_433-24delinsAGCTCACAG	ENSP00000317469.7:n.433-32_433-24delinsAGCTCACAG
ENST00000393994.4:c.433-32_433-24delinsAGCTCACAG	ENSP00000377563.2:n.433-32_433-24delinsAGCTCACAG
ENST00000419755.3:c.544-32_544-24delinsAGCTCACAG	ENSP00000398526.3:n.544-32_544-24delinsAGCTCACAG
ENST00000455748.6:c.432+830_432+838delinsAGCTCACAG	ENSP00000405764.2:n.432+830_432+838delinsAGCTCACAG
ENST00000524458.5:c.*140-185_*140-177delinsAGCTCACAG	ENSP00000436195.1:n.*140-185_*140-177delinsAGCTCACAG
ENST00000524705.2:c.154-32_154-24delinsAGCTCACAG	ENSP00000436927.1:n.154-32_154-24delinsAGCTCACAG
ENST00000524907.5:n.423-32_423-24delinsAGCTCACAG
ENST00000525809.5:c.160-32_160-24delinsAGCTCACAG	ENSP00000431187.1:n.160-32_160-24delinsAGCTCACAG
ENST00000526035.5:c.*140-32_*140-24delinsAGCTCACAG	ENSP00000434197.1:n.*140-32_*140-24delinsAGCTCACAG
ENST00000526760.5:c.*140-32_*140-24delinsAGCTCACAG	ENSP00000432140.1:n.*140-32_*140-24delinsAGCTCACAG
ENST00000527251.5:c.*140-32_*140-24delinsAGCTCACAG	ENSP00000434360.1:n.*140-32_*140-24delinsAGCTCACAG
ENST00000529766.5:n.440-32_440-24delinsAGCTCACAG
ENST00000529953.5:n.85-32_85-24delinsAGCTCACAG
ENST00000529955.5:n.451-185_451-177delinsAGCTCACAG
ENST00000532908.5:c.*140-185_*140-177delinsAGCTCACAG	ENSP00000431866.1:n.*140-185_*140-177delinsAGCTCACAG
ENST00000533430.5:n.211-32_211-24delinsAGCTCACAG
ENST00000533557.5:c.*140-185_*140-177delinsAGCTCACAG	ENSP00000434619.1:n.*140-185_*140-177delinsAGCTCACAG
ENST00000533644.5:c.433-185_433-177delinsAGCTCACAG	ENSP00000436073.1:n.433-185_433-177delinsAGCTCACAG
ENST00000534730.5:n.445-32_445-24delinsAGCTCACAG
ENST00000630659.2:c.*140-32_*140-24delinsAGCTCACAG	ENSP00000486455.1:n.*140-32_*140-24delinsAGCTCACAG
NM_024649.4:c.433-32_433-24delinsAGCTCACAG	NP_078925.3:n.433-32_433-24delinsAGCTCACAG
NM_024649.5:c.433-32_433-24delinsAGCTCACAG MANE Select	NP_078925.3:n.433-32_433-24delinsAGCTCACAG